S5G (p.Ser5Gly) variant of THRB (Thyroid hormone receptor beta)
S5G (p.Ser5Gly) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- ExAC rs758700967
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available